Submissions for variant NM_001048174.2(MUTYH):c.606+14C>G

gnomAD frequency: 0.00009  dbSNP: rs752537118

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000411478	SCV000487336	uncertain significance	Familial adenomatous polyposis 2	2016-02-25	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000584440	SCV000690601	likely benign	Hereditary cancer-predisposing syndrome	2016-08-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001529071	SCV001873065	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Invitae	RCV000411478	SCV002454393	likely benign	Familial adenomatous polyposis 2	2024-01-18	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002264933	SCV002547273	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000500658	SCV000592691	likely benign	Carcinoma of colon		no assertion criteria provided	clinical testing	The c.690+14C>G variant was not identified in the literature nor was it identified in the in dbSNP, NHLBI Exome Sequencing Project (Exome Variant Server), HGMD, COSMIC, MutDB, “Mismatch Repair Genes Variant Database”, “MMR Gene Unclassified Variants Database”, “Zhejiang Colon Cancer Database”, ClinVar database, and UMD databases. However it was listed 2X in “InSiGHT Colon Cancer Database” with undetermined clinical significance. The c.690+14C>G variant occurs outside of the splicing consensus sequence and in silico or computational prediction software (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) does not predict a difference in splicing in 5 of 5 different programs. (However, this information is not predictive enough to rule out pathogenicity.) In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as predicted benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529071	SCV001741904	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001529071	SCV001807156	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001529071	SCV001922283	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529071	SCV001951352	likely benign	not provided		no assertion criteria provided	clinical testing